Contributors
Marya Bengali: Role: ConceptualizationRole: Data curationRole: Formal analysisRole: Writing – original
draft
Spencer Goodman:
ORCID: https://orcid.org/0000-0001-5825-5055
Role: ConceptualizationRole: Data curationRole: Formal analysisRole: Writing – original
draft
Xiaoying Sun: Role: Formal analysis
Magdalene A. Dohil: Role: MethodologyRole: VisualizationRole: Writing – review & editing
Ranjan Dohil: Role: ConceptualizationRole: Writing – review & editing
Robert Newbury: Role: Formal analysisRole: Writing – review & editing
Tatiana Lobry: Role: Visualization
Laura Hernandez: Role: Validation
Corinne Antignac: Role: Formal analysisRole: Writing – review & editing
Sonia Jain: Role: Formal analysisRole: MethodologyRole: ValidationRole: Writing – review & editing
Stephanie Cherqui:
ORCID: https://orcid.org/0000-0003-1240-5219
Role: ConceptualizationRole: Formal analysisRole: Funding acquisitionRole: Project
administrationRole: ResourcesRole: Supervision
Thomas Abraham: Role: Editor
Journal
Journal ID (nlm-ta): PLoS One
Journal ID (iso-abbrev): PLoS One
Journal ID (publisher-id): plos
Journal ID (pmc): plosone
Title:
PLoS ONE
Publisher:
Public Library of Science
(San Francisco, CA USA
)
ISSN
(Electronic):
1932-6203
Publication date
(Electronic):
4
March
2021
Publication date Collection: 2021
Volume: 16
Issue: 3
Electronic Location Identifier: e0247846
Affiliations
[1
]
Division of Genetics, Department of Pediatrics, University of California, San Diego,
La Jolla, California, United States of America
[2
]
Biostatistics Research Center, Herbert Wertheim School of Public Health and Human
Longevity Science, University of California, San Diego, La Jolla, California, United
States of America
[3
]
Division of Pediatric Dermatology, Department of Dermatology, Rady Children’s Hospital,
San Diego, California, United States of America
[4
]
Division of Pediatric Gastroenterology, Department of Gastroenterology, Rady Children’s
Hospital, University of California, San Diego, San Diego, California, United States
of America
[5
]
Department of Pathology, Rady Children’s Hospital, University of California, San Diego,
San Diego, California, United States of America
[6
]
Laboratory of Hereditary Kidney Diseases, Imagine Institute, Inserm UMR1163, Université
de Paris, Paris, France
[7
]
Department of Molecular Genetics, Necker Hospital, Assistance Publique-Hôpitaux de
Paris, Paris, France
Pennsylvania State Hershey College of Medicine, UNITED STATES
Author notes
Competing Interests: I have read the journal’s policy and the authors of this manuscript have the following
competing interests: Stephanie Cherqui is inventor on a patent entitled “Methods of
treating mitochondrial disorders” (#20378-201301) and co-inventor on a patent entitled
“Methods of treating lysosomal disorders” (#20378-202488). She is a cofounder, shareholder
and a member of both the Scientific Board and Board of Directors of Stelios Therapeutics
Inc. Stephanie Cherqui also serves as a member of the Scientific Review Board and
Board of Trustees of the Cystinosis Research Foundation. The terms of this arrangement
have been reviewed and approved by the University of California San Diego in accordance
with its conflict of interest policies. This does not alter our adherence to PLOS
ONE policies on sharing data and materials. There are no other patents, products in
development or marketed products associated with this research to declare.
Author information
Article
Publisher ID:
PONE-D-20-31230
DOI: 10.1371/journal.pone.0247846
PMC ID: 7932553
PubMed ID: 33661986
SO-VID: 08391fbc-e519-4802-86ed-dae3a6a4fe05
Copyright © © 2021 Bengali et al
License:
This is an open access article distributed under the terms of the
Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided
the original author and source are credited.
History
Date
received
: 5
October
2020
Date
accepted
: 13
February
2021
Page count
Figures: 3,
Tables: 2,
Pages: 15
Funding
Funded by: funder-id http://dx.doi.org/10.13039/100000002, National Institutes of Health;
Award ID: RO1-DK090058
Award Recipient
:
ORCID: https://orcid.org/0000-0003-1240-5219
Stephanie Cherqui
Funded by: funder-id http://dx.doi.org/10.13039/100005674, Cystinosis Research Foundation;
Award Recipient
:
ORCID: https://orcid.org/0000-0003-1240-5219
Stephanie Cherqui
Funded by: funder-id http://dx.doi.org/10.13039/100000900, California Institute for Regenerative Medicine;
Award ID: CLIN-09230
Award Recipient
:
ORCID: https://orcid.org/0000-0003-1240-5219
Stephanie Cherqui
Categories
Subject:
Research Article
Subject:
Physical Sciences
Subject:
Materials Science
Subject:
Materials
Subject:
Crystals
Subject:
Physical Sciences
Subject:
Physics
Subject:
Condensed Matter Physics
Subject:
Solid State Physics
Subject:
Crystallography
Subject:
Crystal Structure
Subject:
Biology and Life Sciences
Subject:
Anatomy
Subject:
Integumentary System
Subject:
Skin
Subject:
Dermis
Subject:
Medicine and Health Sciences
Subject:
Anatomy
Subject:
Integumentary System
Subject:
Skin
Subject:
Dermis
Subject:
Medicine and Health Sciences
Subject:
Nephrology
Subject:
Renal Diseases
Subject:
Chronic Kidney Disease
Subject:
Medicine and Health Sciences
Subject:
Surgical and Invasive Medical Procedures
Subject:
Biopsy
Subject:
Medicine and Health Sciences
Subject:
Endocrinology
Subject:
Endocrine Disorders
Subject:
Hypothyroidism
Subject:
Research and Analysis Methods
Subject:
Imaging Techniques
Subject:
Biology and Life Sciences
Subject:
Anatomy
Subject:
Integumentary System
Subject:
Skin
Subject:
Epidermis
Subject:
Medicine and Health Sciences
Subject:
Anatomy
Subject:
Integumentary System
Subject:
Skin
Subject:
Epidermis
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